tbuckley/cabot-search huggingface dataset:
Abstract 74: Whole Genome Sequencing as a Diagnostic Tool for Cardiomyopathy
Authors: Wenyu Pan, Megan J Puckelwartz, Lisa Dellefave-Castillo, Lorenzo L Pesce, Elizabeth M McNally
Journal: Circulation Research (2017)

Background: Congestive heart failure (CHF) is an increasing medical problem that is disabling and costly, and CHF currently affects more than 5 million Americans. A leading cause of CHF is cardiomyopathy, a disorder with a high heritable component. Genetic studies of familial cardiomyopathy have identified more than 50 responsible genes. Knowledge of the genetic underpinnings of disease provides prognostic information and can guide clinical decision- making. Clinical genetic testing employs gene panels for diagnosis, and typical panels include 20-100 genes. We assessed the viability of whole genome sequencing (WGS) to identify potentially pathogenic cardiomyopathy-associated genetic variants in established and novel genes. Methods: WGS was conducted on 91 families (99 individuals) with cardiomyopathy. In 46/91 (50%) families, there was a prior history of unrevealing panel-based clinical genetic testing. WGS was performed using Illumina next generation sequencing. Variants were called and annotated using MegaSeq and MegaSeq2. MegaSeq2 refines the number of candidate variants from ~4 million to &lt;30 using variant effect prediction, conservation at variant site, frequency, and expression data. Results: MegaSeq2 was applied to 99 cardiomyopathy genomes and in 45/91 families (49%), a potentially pathogenic or likely pathogenic variant was identified. Here we describe identification and segregation analysis in 4 families. Two families have unique RBM20 variants that segregate with cardiomyopathy. One family was found to carry a premature stop in SCN5A and exhibits variable phenotypes including sudden death, arrhythmia and cardiomyopathy. The fourth family has cardiomyopathy that segregates with a BAG3 early termination variant. Conclusions: WGS was able to identify potentially pathogenic variants in nearly half (45/91). While some of the variants identified were in novel genes, the majority of pathogenic variants were in established cardiomyopathy genes despite previous panel-based testing. More comprehensive analysis, like WGS, allows for re-evaluation of variation as additional genetic information becomes available.
Forthcoming Papers
Authors: C. Errando, J.E. Batista, J. Caparros, J. Vicente, P. Arañó, T. Mitsui, K. Minami, T. Furuno, H. Morita, T. Koyanagi, Michael J. Swinn, Neil D. Kitchen, Robert J. Goodwin, Clare J. Fowler, Carlos Silva, Maria-Edite Rio, Francisco Cruz, Ciro Pesce, Lorenzo Costa, Luciano Musi, Paolo Campobasso, Leoluca Zimbardo, Ali Horchani, Yassine Nouira, Imed Kbaier, Fethi Attyaoui, Ahmed Said Zribi, R. Hohenfellner, Francesco La Rosa, Fabrizio Stracci, Anna Maria Petrinelli, Paola Casucci, Vito Mastrandrea, Hein van Poppel, Hans Goethuys, Piet Callewaert, Luc Vanuytsel, Wim van de Voorde, Luc Baert, Takatsugu Okegawa, Haruhisa Noda, Kikuo Nutahara, Eiji Higashihara, Morten Andersen, Christer Dahlstrand, Kjetil Høye, Antonio D'Amico, Lukas Lusuardi, Vincenzo Ficarra, Paolo Beltrami, Gianni Malossini, Carlo Tallarigo, Gaetano Mobilio, Markus D. Sachs, Horst Schlechte, Volker S. Lenk, Sebastian Brenner, Dietmar Schnorr, Barbara Fleige, Gerhard Ditscherlein, Stefan A. Loening, P. Hoebeke, P. De Kuyper, H. Goeminne, E. van Laecke, K. Everaert, Birgit Heidenreich, Axel Heidenreich, Andreas Sesterhenn, Shiv Srivastava, Judd W. Moul, Isabell A. Sesterhenn, Christopher R. Chapple, J.L.H. Ruud Bosch, Tomáš Hanuš, J.M. Wolff, U.W. Tunn, Dirk-Henrik Zermann, Manabu Ishigooka, Jörg Schubert, Richard A. Schmidt, Vincenzo Serretta, Giorgio Pomara, Ignazio Rizzo, Elisa Esposito, L. Carlsson, L. Lennartsson, B.O. Nilsson, S. Nilsson, G. Ronquist
Journal: European Urology (2000)
INCREASE OF CANCER IN PRUSSIA, SAXONY AND BADEN.
Journal: JAMA (1900)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Increased 5α-Reductase Activity and Adrenocortical Drive in Women with Polycystic Ovary Syndrome
Authors: Dimitra A. Vassiliadi, Thomas M. Barber, Beverly A. Hughes, Mark I. McCarthy, John A. H. Wass, Stephen Franks, Peter Nightingale, Jeremy W. Tomlinson, Wiebke Arlt, Paul M. Stewart
Journal: Endocrine Reviews (2009)

ABSTRACT Context Polycystic Ovary Syndrome (PCOS) is characterized by hyperandrogenism, anovulation and susceptibility to the metabolic syndrome. Altered peripheral cortisol metabolism has been reported in PCOS but also in simple obesity. Objective To describe cortisol metabolism and metabolic characteristics of a large PCOS cohort and to delineate the effect of obesity by comparison to BMI-matched controls. Design Observational, cross-sectional study. Setting Outpatient clinics of two secondary/tertiary care centres Patients or Other Participants 178 PCOS patients fulfilling Rotterdam criteria and 100 BMI-matched controls. Intervention 24-h urine collection for steroid metabolite excretion, fasting blood samples followed by an OGTT. Main Outcome Measures Urinary steroid metabolites including glucocorticoids and androgens and the ratios reflecting enzymatic activities involved in peripheral cortisol and androgen metabolism, 5α-reductase and 11β-hydroxysteroid dehydrogenase type 1 and 2. Circulating levels of glucose, insulin, DHEA, DHEAS and testosterone, calculation of HOMA. Results Total androgen metabolites were higher in PCOS compared to BMI-matched controls (4105 ± 2047 vs. 2532 ± 1610 μg/24h for the non-obese, 5547 ± 2911 vs. 2468 ± 1794 μg/24hr for the obese, both p &amp;lt; 0.001). Total glucocorticoid metabolites were higher in obese PCOS vs. controls (10786 ± 3852 vs. 8834 ± 4487 μg/24hr, p = 0.001). 5α-reductase activity correlated with BMI, insulin levels and HOMA. Both obese and non-obese PCOS patients had higher 5α-reductase activity than controls (all p &amp;lt; 0.05). 11β-hydroxysteroid dehydrogenase activities did not differ between PCOS and controls. Conclusions PCOS is associated with enhanced androgen and cortisol metabolite excretion and increased 5α-reductase activity that cannot be explained by obesity alone. Increased adrenal corticosteroid production represents an important pathogenic pathway in PCOS.
Correction: Estimating retention in HIV care accounting for patient transfers: A national laboratory cohort study in South Africa
Authors: Matthew P. Fox, Jacob Bor, Alana T. Brennan, William B. MacLeod, Mhairi Maskew, Wendy S. Stevens, Sergio Carmona
Journal: PLoS Medicine (2018)

[This corrects the article DOI: 10.1371/journal.pmed.1002589.].
THE SCOTTISH-NEUROANATOMIST
Journal: JAMA (1961)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Vitamin Content of Certain Proprietary Preparations
Authors: K. H. Coward, A. J. Clark
Journal: BMJ (1923)

B , 3curve gradually falls until the copper value is reached.This suggests that besides a-f3 glucose, disaccharides or other substances with a polarimeter: copper reduction ratio greater than that of a-,8 glucose are present in the blood of diabetic persons.We suggest that a-, glucose cannot be directly stored or utilized, but that an enzyme is responsible for the conversion of a-,3 glucose into y glucose.We picture the
Seroprevalence of antibody to hepatitis E virus among Chinese subjects in Taiwan
Authors: S Lee
Journal: Hepatology (1994)

Recently, with an available serological hepatitis E virus diagnostic kit, the prevalence of IgG antibody to hepatitis E virus among Chinese subjects in Taiwan was evaluated by means of a solid-phase enzyme-linked immunoassay based on two recombinant hepatitis E virus antigens. The overall prevalence of hepatitis E virus antibody was 10.7% among 384 healthy subjects older than 20 yr but only 0.3% among 600 school-children and young adolescents younger than 20 yr (p < 0.0001). Serial serum samples from 32 hepatitis E virus antibody–positive healthy subjects showed 84% of them to have antibodies persisting more than 3 to 8 yr. Among patients with viral hepatitis, IgG hepatitis E virus antibody was detected in 10% of 10 patients with acute hepatitis A, in 9.5% of 63 patients with acute hepatitis B and in 13.9% of 36 patients with acute posttransfusion hepatitis C. Of 77 patients with sporadic non-A, non-B hepatitis, IgG hepatitis E virus antibody was detected in 18.9% of 53 patients positive for antibody to hepatitis C virus and in 45.8% of 24 patients negative for hepatitis C virus antibody (p < 0.03). Most of our hepatitis E virus antibody–positive normal subjects and patients had never been abroad. These findings demonstrate that sporadic or subclinical hepatitis E virus infections also exist among the Chinese subjects in Taiwan. Hepatitis E virus infection may play an important role in patients with hepatitis C virus antibody–negative sporadic non-A, non-B hepatitis. IgG hepatitis E virus antibody in the sera of normal subjects may last for more than 8 yr. (HEPATOLOGY 1994;19:866–870.)
Special ArticleIMMUNITY.
Journal: JAMA (1905)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Participants' Index
Authors: T Aaberg, G Abrams, T Abuan, T Acers, G Aguilar, L Aiello, P Airaksinen, M Allansmith, M Alper, R Anderson, W Annesley, R Appen, M Armaly, N Arribas, G Arsham, P Asbell, J Atwood, C Auer, J Augsburger, M Avila, K Axelson, R Azar
Journal: Ophthalmology (1983)
Investigating infertility
Authors: V. Gowri, R. Jain
Journal: BMJ (2009)

A 23 year old woman was referred to the infertility clinic for subfertility and an ovarian tumour. She had been married for two years and reported having irregular periods every two or three months. She also had a history of mild dysmenorrhoea. She reported having gained 16 kg after marriage and developing excess growth of fine hair all over her body and face. She did not have galactorrhoea, acne, altered appetite, or thyroid symptoms. Apart from treatment for infertility (ovulation induction with clomifene citrate) her medical history was unremarkable. There was no family history of diabetes or hypertension. On examination she was moderately built with a body mass of index of 26 and normal secondary sexual characters. She had a slight excess of fine hair on her face and abdomen. Examination of the breasts and thyroid was normal. No masses were found on examination of the abdomen, and on bimanual examination the uterus was normal with no adnexal masses. A routine transvaginal scan in the outpatient clinic showed bilateral polycystic ovaries with a 4 cm complex cystic lesion in the left ovary (possibly a dermoid cyst) and minimal free fluid in the pouch of Douglas. ### Short answers
A National Cancer Policy&lt;xref ref-type="fn" rid="fn1"&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/xref&gt;
Authors: Thomas Parran, M. D.
Journal: JNCI Journal of the National Cancer Institute (1947)

Journal Article A National Cancer Policy Get access Thomas Parran, M. D. Thomas Parran, M. D. Surgeon General United States Public Health Service Search for other works by this author on: Oxford Academic PubMed Google Scholar JNCI: Journal of the National Cancer Institute, Volume 7, Issue 5, April 1947, Pages 299–303, https://doi.org/10.1093/jnci/7.5.299-a Published: 01 April 1947
TISSUES FUNCTIONALLY EQUIVALENT TO THE SUPRARENALS
Journal: JAMA (1920)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Violence in geriatric patients
Authors: K. Tardiff
Journal: JAMA (1982)

As physicians concerned with the preservation of life, the problem of violence is well within our sphere in terms of its study, treatment, and, hopefully, prevention. In studying the characteristics of violent psychiatric patients and criminals in general, young persons have received the most attention as perpetrators of violence, while old persons have been seen as vulnerable victims of violence. The article by Petrie and colleagues in this issue ofThe Journal(p 443) focuses our attention on the old, namely, patients admitted to a geriatric unit of a state hospital. Approximately 8% of these patients committed serious violent acts with a weapon, usually a gun, and another 63% were physically assaultive without a weapon or verbally abusive toward other persons. For those geriatric patients using a weapon, it usually was their first violent episode and first experience with psychiatric treatment. This certainly differs from the picture of the young
THE UNGRATEFUL GUEST
Journal: JAMA (1967)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Finding the High-Risk Patient With Coronary Artery Disease
Authors: Melvin D. Cheitlin
Journal: JAMA (1988)

OVER the years, many clinical studies have been reported that relate clinical, angiographic, and hemodynamic variables to prognosis in the patient with coronary artery disease.<sup>1-4</sup>The complications of coronary disease considered to constitute "bad" prognosis vary and include congestive heart failure, myocardial infarction, and death, as well as reversible end points such as the development of life-threatening arrhythmias, unstable angina, and angina requiring bypass surgery. These studies have been both retrospective and prospective and have identifed a number of clinical and laboratory variables related to the selected prognostic end points, first in a univariate and then in a multivariate analysis. This allows subdivision of the patients into high- and low-risk groups, relating risk to the morbidity and mortality achievable by medical treatment of patients with coronary artery disease. Because coronary atherosclerosis progresses with time, whatever risk stratification is done should be periodically repeated. The interval depends on whether there
Correction
Journal: BMJ (1949)

and calcium would not affect a fungous infection, but a -state of health demanding such measures might bear upon the -diagnosis of a seborrhoeic dermatosis.There is no danger in using the ointment mentioned apart from idiosyncrasy and sensitization.Repeated boiling or formalin treatment of -clothes are effective fungicidal measures.Scrotal dermatitis may be evidence of a riboflavin deficiency.The Singapore cases are referred to by Sefton (Brit.J. Dermn.Syph., 1947, 59, 85-103 and 159-168). Frequent MicturitionQ.-A n uinm7arried femtiale aged 26 has suflered from fre- iquency of micturition since the age of 12.This greatly incapacilates her in her work, which entails attenidance at lengthy public functions, and causes great mental straini.She can rarely hold Urine for more thlan two hours, frequently passes it every hour, .andsometimes several times in an houir, wvithout any apparent predisposinig cause.Investigation of the genito-uiriniary tract reveals no0 abnormnality.The urine is acid with no abnormal iconstituenits; no pathogenic organiisms have ever beeni found.Treatmnent wvith alkalinie mixtures has had no effect, and seda- -tives have proved luseless.Would you advise the use of vasopressin, and, if so, in what dosage ?Would there be any ill
Operative Gynecology
Journal: JAMA (1953)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Extra-Primary Seeding of Glioblastoma Multiforme in the Subarachnoid Space and Ependyma
Journal: JAMA (1963)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal